DOCSLIB.ORG

Erythromelalgic Microvascular Disturbances, Major Thrombosis

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Erythromelalgic Microvascular Disturbances, Major Thrombosis & Throm gy b o o l e o t m Journal of Hematology & a b o m l e i c H D f o i s l e a Thromboembolic Diseases ISSN: 2329-8790 a Michiels, J Hematol Thromb Dis 2014, 2:5 n s r e u s o J DOI: 10.4172/2329-8790.1000149 Review Article Open Access Erythromelalgic Microvascular Disturbances, Major Thrombosis and Hemorrhagic Manifestations of Thrombocythemia in Patients with Essential Thrombocythemia and Polycythemia Vera: Therapeutic Implications Jan Jacques Michiels* Academic Hospital Dijkzigt, Erasmus University Rotterdam (EUR 1974-1998), Department of Hematology, Antwerp University Hospital, Belgium, and Goodheart Institute, Bloodcoagulation and Vascular Medicine Center, Rotterdam, (1998-2014) The Netherlands Abstract Aspirin responsive erythromelalgia is the presenting symptom of thrombocythemia in patients with essential thrombocythemia (ET) and polycythemia vera (PV). Skin punch biopsies taken from the affected areas of erythromelalgia and acrocyanotic compications show typical arteriolar inflammation, fibromuscular intimal proliferation and thrombotic occlusions. If left untreated both microvascular and major thrombosis frequently do occur in thrombocythemia in ET and PV patients, but can easily be cured and prevented by low dose aspirin. The stratification as low, intermediate and high thrombotic risk in the retrospective Bergamo studies has been performed in ET patients not treated with aspirin. The risk of thrombosis in aspirin treated ET and PV is not age dependent when on low dose aspirin, and does recur when not on low dose aspirin during follow-up. The persistence of the Bergamo definition of low, intermediate and high thrombotic risk in the 2012 International Prognostic Score of Thrombosis in ET (IPSET) is applicable for JAK2 mutated ET and PV patients not on aspirin and has led to significant overtreatment with hydroxyurea. MPN disease burden in patients with JAK2V617F positive ET and PV is related to JAK2 allele burden and associated leukocytosis, thrombocytosis, constitutional symptoms and splenomegaly. Low dose peglyated interferon (PegasysR, 45 µg/ ml once per week or every two weeks) is becoming the first line myeloreductive treatment option to postpone the useof hydroxyurea as long as possible. Von Willebrand factor (VWF) mediated platelet thrombi formation, as well as increased proteolysis of the VWF multimers in one and the same patient do occur simultaneously or in sequence leading to the paradoxical occurrence of thrombosis at platelet count aboe 400x109/L and bleeding at platelet counts above 1000x109/L due to an acquired von Willebrand disease type 2A. Keywords: Erythromelalgia; Hemorrhages; Arterial thrombosis; Prospective Clinical Studies on Erythromelalgia and Thrombocythemia; Polycythemia vera; Essential thrombocythemia; Acrocyanotic Toes or Fingers in ET and PV Hemorrhagic thrombocythemia; Thrombotic thrombocythemia; Aspirin; Myeloproliferative disorders The broad spectrum of clinical features of erythromelalgia and peripheral, cerebral and coronary ischemic events in 24 patients with Introduction myeloproliferative thrombocythemia (11 ET and 13 PVT patients were collected by the Rotterdam MPN Study Group in the period Mitchel first reported a syndrome of redness and burning pain in between 1975 and 1981 (Table 1) [3,4]. Complaints of erythromelalgia the extremities, which were labeled erythromelalgia [1]. The relief of consisted of painful red to cyanotic toes or fingers. The pain may vary pain for several days after a single dose of aspirin (500 mg) is specific from prickling, pins and needle stick sensation to a severe burning and can be used as a diagnostic criterion for erythromelalgia [2]. We pain. The involved areas of fore foot toe or fingers are always swollen discovered that aspirin responsive erythromelalgia is causally related to and painful on palpation and touch (Figures 1 and 2) [3-6]. At time thrombocythemia in patients with essential thrombocythemia (ET) and of burning pain severe attacks of tingling prickling may occur [3,4]. polycythemia vera (PV) at platelet counts around and above 400x10/L The burning pain of erythromelalgia increased on walking compelling [3,4]. By demonstratin that erythromelalgia in thrombocythemia the patient to rest with the involved extremity elevated. After rest with disappeared for 2 to 4 days after a single dose of aspirin (500 mg). This the involved extremity elevated, the erythromelalgic redness may could be attributed to the irreversible inactivation of platelet cyco- disappear but the extremity remains swollen, acrocyanotic and painful oxygenase activity for 2 to 4 days by acetyl-salicylic acid (aspirin). on touch. Fingertips or toes remain red, swollen and severely painful As sodium salicylic acide has no cyclo-oxygenase inhibiting acticity like a burn. Acrocyanotic spots in erythromelalgic areas were present in on platelets and has no effect at all on erythromelalgia we concluded 8 cases indicating localized ischemia (Table 1) [3-6]. In one ET patient in 1985 that aspirin responsive erythromelalgia in thrombocythemia is caused by platelet mediated microvascular infammatrory and thrombosis in ET and PV patients [3-6]. *Corresponding author: Jan Jacques Michiels, Goodheart Institute, The present study reviews the original description of the Bloodcoagulation and Vascular Medicine Center, Erasmus Tower, Veenmos 13, 3069 broad spectrum of microvascular, thrombotic and hemorrhagic AT Rotterdam, Netherlands, Tel: +316-26970534; Email: [email protected] manifestations in ET and PV patients related to peripheral blood Received April 17, 2013; Accepted July 07, 2014; Published July 15, 2014 cell counts, bone marrow features, and burden of myelopoliferative Citation: Michiels JJ (2014) Erythromelalgic Microvascular Disturbances, Major neoplasm (MNP) disease.The pathophysiology of platelet-mediated Thrombosis and Hemorrhagic Manifestations of Thrombocythemia in Patients with arterial thrombosis and bleeding in ET and PV patients is discussed Essential Thrombocythemia and Polycythemia Vera: Therapeutic Implications. J Hematol Thromb Dis 2: 149. doi: 10.4172/2329-8790.1000149 and interpreted in view of the recent literature and updated treatment recommendations for the prevention of platelet-mediated thrombosis Copyright: © 2014 Michiels JJ. This is an open-access article distributed under and bleeding in thrombocythemia and by reduction of MPN disease the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and burden by pegylated interferon or hydroxyurea. source are credited. J Hematol Thromb Dis ISSN: 2329-8790 JHTD, an open access journal Volume 2 • Issue 5 • 1000149 Citation: Michiels JJ (2014) Erythromelalgic Microvascular Disturbances, Major Thrombosis and Hemorrhagic Manifestations of Thrombocythemia in Patients with Essential Thrombocythemia and Polycythemia Vera: Therapeutic Implications. J Hematol Thromb Dis 2: 149. doi: 10.4172/2329- 8790.1000149 Page 2 of 16 Number Gender Platelets/ Hb/Ht Erythromelalgia TIA/ACS History ETT Diagnosis Age/yrs 109/L mmol/L % Toes Fingers Skin Gangrene months A1 ET F 62 792 10.3/50 bilateral present 45 A2 ET M 39 887 10.0/51 bilateral - - present TIA/ACS 154 A3 ET F 42 911 8.9/47 - unilateral yes ACS 60 A4 ET M 47 614 8.0/39 unilateral - - present TIA 12 A5 ET M 46 939 8.3/40 unilateral - - present 4 A6 ET M 33 742 9.8/45 - - - - TIA/ACS 20 A7 ET M 45 567 9.5/46 bilateral yes ACS 60 A8 ET M 39 875 8.8/43 bilateral bilateral yes - - 30 A9 ET M 51 690 8.8/45 bilateral - - present - 20 A10 ET M 40 1440 8.6/43 unilateral - - present - 30 A11 ET F 72 1435 9.4/46 unilateral - - - - 30 A12 PVT M 63 1932 11.1/56 bilateral - - - - 24 A13 PVT F 75 1800 12.1/62 - unilateral yes - - 3 A14 PVT M 61 952 8.3/45 bilateral - - - - 0 A15 PVT M 53 636 7.7/39 unilateral - - present - 36 A16 PVT F 60 1065 13.4/68 bilateral - - - - 48 A17 PVT F 49 728 10.9/57 - bilateral - - - 1 A18 PVT M 66 1035 12.2/64 bilateral - - - - 18 A19 PVT M 71 1320 13.3/70 unilateral - - - - 2 A20 PVT M 65 1300 11.9/65 unilateral - - present - 24 A21 PVT F 55 1085 12.2/61 - unilateral - - - 4 A22 PVT F 59 708 11.0/59 - bilateral yes - - 3 A23 PVT F 74 959 13.1/72 unilateral unilateral - - - 24 A24 PVT M 71 609 12.5/66 unilateral 6 Table 1: Erythromelalgia and microvascular disturbances in 24 patients with ETT (11 ET and 13 PV) [3]. the fingertipss was followed by cold, swollen acrocyanosis of 4 fingers of the left hand (aspirin responsive blue finger and black toe syndrome in PVT, Figure 1) [1-4]. In ET erythromelalgia already develops at pflaftefleft counft fin excess off 350 fto9 400x10 /L. WThen sympftomaftfic at ‘normal’ platelet count around 350x109/L in PV in remission by phlebotomy alone platelet count usually rise to values above 400x109/L during aspirin treatment [3,4]. The time lapse between first complaints of typical erythromelalgia and the diagnosis of ET or PV elapsed from a few months to 5 years, (mean 2,25) years [3,4]. One ET patients (A2) had a very long history of erythromelalgia complicated by peripheral gangrene, atypical TIAs and recurrent coronary ischemic events. Seven cases with longstanding erythromelalgic signs and symptoms developed ischemic complications: acrocyanosis with blister formation of the big toe (A1), a necrotic spot in the tip of a toe in 4 (A1, A1, A4, A20) [3,4]. In PV case 20 with red congestion of the big and second toe and a necrotic spot of the third toe bone marrow biopsy from the anterior iliac crest was complicated by wound dehiscent and subcutaneous ecchymosis. Sympathectomy because of ischemic complication was not effective in 5 cases with blue black toes and digital gangrene (thrombo- angiitis obliterans) in the absence of infection and inflammation in 3 Figure 1: A. Severe burning painand red, warm congestion of big and litlle (A4, A5, A10), and necrosis of the distal phalanx of a toe in 2 (A2, toes, sole of forefoot, and lateral edge of right foot are evident 1 week after A9).
Load more

Recommended publications
  • High Prevalence of Sticky Platelet Syndrome in Patients with Infertility and Pregnancy Loss
    Journal of Clinical Medicine Article High Prevalence of Sticky Platelet Syndrome in Patients with Infertility and Pregnancy Loss Eray Yagmur 1,* , Eva Bast 2, Anja Susanne Mühlfeld 3, Alexander Koch 4, Ralf Weiskirchen 5 , Frank Tacke 6 and Joseph Neulen 7 1 Medical Care Center, Dr. Stein and Colleagues, D-41169 Mönchengladbach, Germany 2 Department of Gynecology and Obstetrics, Bürgerhospital Frankfurt, D-60318 Frankfurt, Germany 3 Division of Nephrology and Clinical Immunology,RWTH-University Hospital Aachen, D-52074 Aachen, Germany 4 Department of Medicine III, RWTH-University Hospital Aachen, D-52074 Aachen, Germany 5 Institute of Molecular Pathobiochemistry, Experimental Gene Therapy and Clinical Chemistry, RWTH-University Hospital Aachen, D-52074 Aachen, Germany 6 Department of Hepatology and Gastroenterology,Charité University Medical Center, D-10117 Berlin, Germany 7 Department of Gynecological Endocrinology and Reproductive Medicine, RWTH-University Hospital Aachen, D-52074 Aachen, Germany * Correspondence: [email protected]; Tel.: +49-2161-8194-442 Received: 26 July 2019; Accepted: 26 August 2019; Published: 28 August 2019 Abstract: Platelet hyperaggregability, known as sticky platelet syndrome (SPS), is a prothrombotic disorder that has been increasingly associated with pregnancy loss. In this retrospective study, we aimed to investigate the clinical and diagnostic relevance of SPS in 208 patients with infertility and unexplained pregnancy loss history. We studied 208 patients that had been referred to undergo a dose-dependent platelet aggregation response to adenosine diphosphate and epinephrine using light transmission aggregometry modified by Mammen during an 11-year period. Patients’ platelet aggregation response was compared with platelet function in 29 female healthy controls of fertile age with no previous history of pregnancy loss.
    [Show full text]
  • The Impact of Thrombophilia in the Management Of
    S6 MPN III – Abstracts of the 8th International Hematology Expert Meeting / Leukemia Research 44 S1 (2016) S1–S12 Figure 1. Possible new treatment algorithm in polycythemia vera and essential thrombocythemia (CVR = cardiovascular risk factors). Adapted from: Tefferi A, Barbui T. Am J Hematol 2015;90(8):683–5 MPN III the Czech part of the international registry (“Registry”) of anagrelide (Thromboreductin®)-treated patients. The impact of thrombophilia in the management of MPN The recent analysis of the “Registry” [6] included altogether 1179 patients having MPD-T – either ET, PV or PMF according to PVSG criteria. In 812 J. Schwarz patients, the WHO/CZEMP diagnosis could be established: ET – 445 CZEMP (Czech Group for Ph– Myeloproliferative Disorders), Prague, Czech (54.8%), PMF – 206 (25.4%), PV – 107 (13.2%), and other (mostly MPN- Republic unclassifiable) – 54 (6.7%) cases. The M/F ratio was 2:3, the median age of The overall thrombotic risk in a normal healthy population is always based patients was 52 years (6–91 years) at diagnosis. The incidence of vascular on a combination of multiple risk factors present in one individual. The events was compared in the history (before entering the Registry) and risk parameters for arterial and venous events differ. MPD-T represents during follow-up (on anagrelide treatment). History and follow-up a situation in which the specific MPD-related risks (such as the JAK2 represented 4149 and 4742 patient-years, respectively. For arterial events, mutation) are combined with other risk factors present in the general there was a decrease in the incidence of events from 5.04 to 2.74 per 100 population.
    [Show full text]
  • Sticky Platelet Syndrome
    SEMINARS IN THROMBOSIS AND HEMOSTASIS—VOL. 25, NO. 4, 1999 Sticky Platelet Syndrome EBERHARD F. MAMMEN, M.D. ABSTRACT The sticky platelet syndrome (SPS) is an autosomal dominant platelet disorder associated with arterial and venous thromboembolic events. It is characterized by hyperaggregability of platelets in platelet-rich plasma with adenosine diphosphate (ADP) and epinephrine (type I), epinephrine alone (type II), or ADP alone (type III). Clinically, patients may present with angina pectoris, acute myocardial infarc• tion (MI), transient cerebral ischemic attacks, stroke, retinal thrombosis, peripheral arterial thrombosis, and venous thrombosis, frequently recurrent under oral anticoagulant therapy. Clinical symptoms, espe• cially arterial, often present following emotional stress. Combinations of SPS with other congenital throm- bophilic defects have been described. Low-dose aspirin treatment (80 to 100 mg) ameliorates the clinical symptoms and normalizes hyperaggregability. The precise etiology of this defect is at present not known, but receptors on the platelet surface may be involved. Normal levels of platelet factor 4 (PF4) and p-throm- boglobulin in plasma suggest that the platelets are not activated at all times; they appear to become hyper• active upon ADP or adrenaline release. In vivo clumping could temporarily or permanently occlude a ves• sel, leading to the described clinical manifestations. The syndrome appears to be prominent especially in patients with unexplained arterial vascular occlusions. Keywords: Platelets,
    [Show full text]
  • Immune Thrombocytopenia and JAK2V617F Positive Essential Thrombocythemia: Literature Review and Case Report
    Hindawi Case Reports in Hematology Volume 2017, Article ID 3725089, 4 pages https://doi.org/10.1155/2017/3725089 Case Report Immune Thrombocytopenia and JAK2V617F Positive Essential Thrombocythemia: Literature Review and Case Report M. A. Sobas,1 T. Wróbel,1 K. Zduniak,2 M. Podolak-Dawidziak,1 J. Rybka,1 M. BiedroN,1 M. Sawicki,1 J. Dybko,1 and K. Kuliczkowski1 1 Department of Haematology, Blood Neoplasms and Bone Marrow Transplantation, Medical University of Wrocław, Wrocław, Poland 2Department of Pathology, Medical University of Wrocław, Wrocław, Poland Correspondence should be addressed to M. A. Sobas; [email protected] Received 27 March 2017; Revised 28 May 2017; Accepted 27 June 2017; Published 20 July 2017 Academic Editor: Eduardo Arellano-Rodrigo Copyright © 2017 M. A. Sobas et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. We present the case where immune thrombocytopenia (ITP) and essential thrombocythemia (ET) sequentially appeared in the space of twenty-one years of follow-up. Impaired platelet production is present in both diseases, but clinical presentation and treatment are different. On the basis of this case history a possible role of autoimmunity as a predisposing factorto myeloproliferation has been discussed. 1. Introduction but proved one with myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) [6]. Primaryimmunethrombocytopeniapreviouslycalledidio- pathic thrombocytopenic purpura or immune thrombocy- Here we present a case report of a patient with ITP who topenic purpura (ITP) is characterized by autoimmune- was diagnosed with ET, after 21 years of follow-up.
    [Show full text]
  • Controversies in Thrombosis and Hemostasis Part 2–Does Sticky Platelet Syndrome Exist?
    Published online: 2019-01-10 Commentary 69 Commentary: Controversies in Thrombosis and Hemostasis Part 2–Does Sticky Platelet Syndrome Exist? Emmanuel J. Favaloro, PhD, FFSc (RCPA)1 Giuseppe Lippi, MD2 1 Department of Haematology, Sydney Centres for Thrombosis and Address for correspondence Emmanuel J. Favaloro, PhD, FFSc (RCPA), Haemostasis, Institute of Clinical Pathology and Medical Research, Department of Haematology, Institute of Clinical Pathology and Westmead Hospital, Westmead, NSW, Australia Medical Research (ICPMR), Westmead Hospital, Westmead, NSW, 2 Section of Clinical Biochemistry, University of Verona, Verona, Italy Australia (e-mail: [email protected]). Semin Thromb Hemost 2019;45:69–72. Hemostasis ¼ love. plasma coagulation system (including clot formation).1 Although this provides a convenient separation to help teach Everyone talks about, but no one understands it. hemostasis to junior scientists, and to study this process in vitro, it needs to be recognized that, in vivo at least, these Hemostasis is complex. The process of hemostasis has sev- systems do not work in isolation. Primary and secondary eral outcomes, including physiologically arresting blood loss hemostasis work in concert to form the platelet plug. Injury at sites of vascular injury. In simple terms, this is achieved by to a blood vessel causes a cascade of events. The injury formation of a “plug that seals the hole.” This “plug” com- releases cellular components including “tissue factor,” as prises a framework of blood components that act together to well as exposing subendothelial surfaces that are normally create a stable mass that stops further blood leakage. not exposed to this blood. This causes activation of “second- Hemostasis involves the complex interaction of many ary hemostasis” by several mechanisms.
    [Show full text]
  • Essential Thrombocythemia Effective Date: July, 2021
    Guideline Resource Unit [email protected] Essential Thrombocythemia Effective Date: July, 2021 Clinical Practice Guideline LYHE-012 – Version 1 www.ahs.ca/guru Background Thrombocytosis, defined as a platelet count of ≥ 450 x 109/L, is common in clinical practice and can be related to primary or secondary causes. Essential thrombocythemia (ET), a primary cause, is a Philadelphia-negative classical myeloproliferative neoplasm (MPN) defined by clonal thrombocytosis1. Similar to other classical MPNs, mutually exclusive driver mutations including JAK2, CALR and MPL are responsible for the pathogenesis of ET with the most frequent mutation JAK2V617F found in 55% of ET, 15-30% having CALR and 4-8% having MPL, while 10-20% lack a driver mutation and are referred to as “triple negative”2. ET is complicated by thrombosis and bleeding risk with potential of transformation to myelofibrosis or alternative aggressive myeloid neoplasm. This guideline is to provide information regarding the diagnosis and management of ET based on our current standards. Guideline Questions 1. What diagnostic and baseline investigations are recommended for adult patients with suspected or confirmed ET? 2. What are the recommended treatment options for ET? 3. How do you manage extreme thrombocytosis? 4. How do you treat thrombosis in the setting of ET and other MPNs? 5. What is the current peri-operative and peripartum management strategies for ET/MPN patients? Search Strategy This guideline was generated using systematic literature searches of PubMed and MEDLINE databases, ASCO, EHA abstracts and proceedings, and ASH abstracts and proceedings. The search included practice guidelines, systematic reviews, meta-analyses, randomized controlled trials and clinical trials.
    [Show full text]
  • ISTH Couverture 6.6.2012 10:21 Page 1 ISTH Couverture 6.6.2012 10:21 Page 2 ISTH Couverture 6.6.2012 10:21 Page 3 ISTH Couverture 6.6.2012 10:21 Page 4
    ISTH Couverture 6.6.2012 10:21 Page 1 ISTH Couverture 6.6.2012 10:21 Page 2 ISTH Couverture 6.6.2012 10:21 Page 3 ISTH Couverture 6.6.2012 10:21 Page 4 ISTH 2012 11.6.2012 14:46 Page 1 Table of Contents 3 Welcome Message from the Meeting President 3 Welcome Message from ISTH Council Chairman 4 Welcome Message from SSC Chairman 5 Committees 7 ISTH Future Meetings Calendar 8 Meeting Sponsors 9 Awards and Grants 2012 12 General Information 20 Programme at a Glance 21 Day by Day Scientific Schedule & Programme 22 Detailed Programme Tuesday, 26 June 2012 25 Detailed Programme Wednesday, 27 June 2012 33 Detailed Programme Thursday, 28 June 2012 44 Detailed Programme Friday, 29 June 2012 56 Detailed Programme Saturday, 30 June 2012 68 Hot Topics Schedule 71 ePoster Sessions 97 Sponsor & Exhibitor Profiles 110 Exhibition Floor Plan 111 Congress Centre Floor Plan www.isth.org ISTH 2012 11.6.2012 14:46 Page 2 ISTH 2012 11.6.2012 14:46 Page 3 WelcomeCommittees Messages Message from the ISTH SSC 2012 Message from the ISTH Meeting President Chairman of Council Messages Dear Colleagues and Friends, Dear Colleagues and Friends, We warmly welcome you to the elcome It is my distinct privilege to welcome W Scientific and Standardization Com- you to Liverpool for our 2012 SSC mittee (SSC) meeting of the Inter- meeting. national Society on Thrombosis and Dr. Cheng-Hock Toh and his col- Haemostasis (ISTH) at Liverpool’s leagues have set up a great Pro- UNESCO World Heritage Centre waterfront! gramme aiming at making our off-congress year As setting standards is fundamental to all quality meeting especially attractive for our participants.
    [Show full text]
  • Essential Thrombocythemia Facts No
    Essential Thrombocythemia Facts No. 12 in a series providing the latest information for patients, caregivers and healthcare professionals www.LLS.org • Information Specialist: 800.955.4572 Introduction Highlights Essential thrombocythemia (ET) is one of several l Essential thrombocythemia (ET) is one of a related “myeloproliferative neoplasms” (MPNs), a group of closely group of blood cancers known as “myeloproliferative related blood cancers that share several features, notably the neoplasms” (MPNs) in which cells in the bone “clonal” overproduction of one or more blood cell lines. marrow that produce the blood cells develop and All clonal disorders begin with one or more changes function abnormally. (mutations) to the DNA in a single cell; the altered cells in l ET begins with one or more acquired changes the marrow and the blood are the offspring of that one (mutations) to the DNA of a single blood-forming mutant cell. Other MPNs include polycythemia vera and cell. This results in the overproduction of blood cells, myelofibrosis. especially platelets, in the bone marrow. The effects of ET result from uncontrolled blood cell l About half of individuals with ET have a mutation production, notably of platelets. Because the disease arises of the JAK2 (Janus kinase 2) gene. The role that this from a change to an early blood-forming cell that has the mutation plays in the development of the disease, capacity to form red cells, white cells and platelets, any and the potential implications for new treatments, combination of these three cell lines may be affected – and are being investigated. usually each cell line is affected to some degree.
    [Show full text]
  • Immune Thrombocytopenic Purpura with Subsequent Development of JAK2 V617F-Positive Essential Thrombocythemia: Case Report
    ISSN: 2640-7914 DOI: https://dx.doi.org/10.17352/ahcrr CLINICAL GROUP Received: 13 July, 2021 Case Report Accepted: 03 August, 2021 Published: 04 August, 2021 *Corresponding author: Marisabel Hurtado-Castillo, Immune thrombocytopenic PGY-3, Internal Medicine, Department of Medicine at NYU, 536 Ovington Avenue Apartment 3, Brooklyn NYC 11209, USA, Tel: 718-312-9641; purpura with subsequent Email: Keywords: Immune thrombocytopenic purpura; development of JAK2 Essential thrombocythemia; JAK-STAT signaling path- way; JAK2(V617F) mutation V617F-positive essential https://www.peertechzpublications.com thrombocythemia: Case Report Marisabel Hurtado-Castillo1*, Brian Flaherty2 and Morris Jrada2 1PGY-3, Internal Medicine, Department of Medicine at NYU, Brooklyn, NY, USA 2Clinical Assistant Professor, Department of Medicine at NYU Grossman School of Medicine, Brooklyn, NY, USA Abstract The sequential occurrence of Immune Thrombocytopenic Purpura (ITP) and Essential Thrombocythemia (ET) has been reported in the literature on a few occasions, as these are two hematologic disorders with distinct etiologies and patients usually have contrasting clinical presentations. Our case highlights the sequential occurrence of ITP, followed by Janus kinase 2 (JAK2) (V617F)-positive ET in a 64-year-old white woman, after four years of follow-up. The pathophysiology relating to these two conditions is incompletely understood, however, JAK2(V617F) mutation has been found in all the cases reported. Early identifi cation of JAK2(V617F) mutation in a patient with a
    [Show full text]
  • Rare Thrombophilic Conditions
    342 Review Article Page 1 of 10 Rare thrombophilic conditions Gian Luca Salvagno1, Chiara Pavan2, Giuseppe Lippi1 1Section of Clinical Biochemistry, University of Verona, Verona, Italy; 2Division of Geriatric Medicine, Mater Salutis Hospital, Legnago, Verona, Italy Contributions: (I) Conception and design: GL Salvagno; (II) Administrative support: None; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: GL Salvagno, C Pavan; (V) Data analysis and interpretation: All authors; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Prof. Gian Luca Salvagno, MD, PhD. Sezione di Biochimica Clinica, Dipartimento di Neuroscienze, Biomedicina e Movimento, Università degli Studi di Verona, Ospedale Policlinico G.B. Rossi, Piazzale Scuro, 10, 37134 Verona, Italy. Email: [email protected]. Abstract: Thrombophilia, either acquired or inherited, can be defined as a predisposition to developing thromboembolic complications. Since the discovery of antithrombin deficiency in the 1965, many other conditions have been described so far, which have then allowed to currently detect an inherited or acquired predisposition in approximately 60–70% of patients with thromboembolic disorders. These prothrombotic risk factors mainly include qualitative or quantitative defects of endogenous coagulation factor inhibitors, increased concentration or function of clotting proteins, defects in the fibrinolytic system, impaired platelet function, and hyperhomocysteinemia. In this review article, we aim to provide an overview on epidemiologic, clinic and laboratory aspects of both acquired and inherited rare thrombophilic risk factors, especially including dysfibrinogenemia, heparin cofactor II, thrombomodulin, lipoprotein(a), sticky platelet syndrome, plasminogen activator inhibitor-1 apolipoprotein E, tissue factor pathway inhibitor, paroxysmal nocturnal haemoglobinuria and heparin-induced thrombocytopenia.
    [Show full text]
  • Thrombophilia in Mexico Benjamín Moncada1, Guillermo Ruiz-Argüelles2 and Olga Johnson-Ponce1 1Universidad Autónoma De San Luis Potosi; Hospital Central Dr
    GACETA MÉDICA DE MÉXICO SPECIAL ARTICLE Thrombophilia in Mexico Benjamín Moncada1, Guillermo Ruiz-Argüelles2 and Olga Johnson-Ponce1 1Universidad Autónoma de San Luis Potosi; Hospital Central Dr. Ignacio Morones Prieto; San Luis Potosí, S.L.P., Mexico; 2Centro de Hematologia y Medicina Interna de Puebla, Pue Mexico Primary thrombophilia is among the genetic anom- – Thrombosis at rare sites, not usual for thromboses. alies that translate into important disease. In this pa- – Women that have suffered one or more thology, coagulation takes place when in reality it is miscarriages. not necessary. Thrombophilia is the opposite of he- – Thrombosis in spite of being on anticoagulants. mophilia, where patients suffer excessive bleeding – Family history of thrombosis. even with negligible injuries, which does not occur in – Recurrent thrombosis with no apparent precipi- normal subjects with intact coagulation mechanisms. tating factor. The explanation of hemophilia is reduced to a handful As it can be appreciated in table 2, the explanation of situations, whereas in the case of thrombophilia, of thrombophilia is not a single one, but thrombotic there would be over a dozen explanations. Knowledge phenomena can be of different origins. It is also ap- of these two diseases, both by the public and the preciated that the vast majority of patients have more medical class, is contrastingly in favor of hemophilia. than one alteration on these laboratory tests. The In the case of this disease, there are even therapeutic average age of patients in this group was 30 years. means available to avoid excessive and even mortal Standing out in the lead is the presence of the meth- bleeding when there is the presumption of a problem ylenetetrahydrofolate reductase gene 677C-T muta- such as major surgery would be or one of minor im- tion and platelet adhesiveness alteration, which con- portance such as dental extraction.
    [Show full text]
  • First-Line Idiopathic Thrombocytopenic Purpura Therapies – Benefits and Limitations
    Rodeghiero.qxp 6/3/08 12:11 Page 25 Coagulation Disorders Platelet Disorders First-line Idiopathic Thrombocytopenic Purpura Therapies – Benefits and Limitations a report by Francesco Rodeghiero and Marco Ruggeri Department of Haematology, San Bortolo Hospital, Vicenza DOI: 10.17925/EOH.2007.0.0.25 Idiopathic thrombocytopenic purpura (ITP) is a primary acquired time. The use of anti-DIg in order to delay or avoid splenectomy proved disease of adults and children characterised by transient or persistent ineffective in at least two prospective studies.16,17 The efficacy of decrease of the platelet count.1,2 Bleeding may be severe and is usually high-dose dexamethasone in inducing a higher rate of durable related to the platelet count. When platelet count is lower than remissions remains unsettled. 20–30x109/l, bleeding is manifested by variably extensive purpura and mucosal haemorrhages; occasionally, in the case of a much lower In a recent paper, Cheng and colleagues18 reported their experience platelet count, this can be severe enough to cause a cerebral of treating 125 new cases of severe ITP with one course of high-dose haemorrhage. Haemorrhagic deaths are reported in fewer than 1% of dexamethasone. A good response was reached in 85% of patients cases. When a safe platelet count (more than 20–30X109/l) cannot be and it was durable in up to 45%. In 50% of those relapsing, a maintained, the mortality rate is greatly increased and proportional to second durable response was achieved with a second course. These the time at risk and age of the patient, reaching an age-adjusted death promising results were confirmed in a subsequent multicentre rate of 13/100 patient-years.3–6 prospective Italian study19 in which high-dose dexamethasone was given every 14 days for up to four cycles, with an initial response rate The diagnosis is one of exclusion, based on the absence of additional of 85.6%.
    [Show full text]